Entry - #618149 - OROFACIAL CLEFT 8; OFC8 - OMIM

 
ICD+
# 618149

OROFACIAL CLEFT 8; OFC8


Alternative titles; symbols

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q28 Orofacial cleft 8 618149 3 TP63 603273
Phenotypic Series
 


▼ TEXT

A number sign (#) is used with this entry because of evidence that orofacial cleft-8 (OFC8) is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28.

▼ Description

Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip (Leoyklang et al., 2006; Basha et al., 2018).


▼ Clinical Features

Leoyklang et al. (2006) reported a 4-year-old Thai girl with a surgically repaired bilateral complete cleft lip. Her parents were unaffected.

Basha et al. (2018) reported a family (CLP-1055) in which the proband and his father had orofacial cleft. The son had a unilateral, right-sided cleft lip. He had no limb anomaly, no ectodermal dysplasia, and no cardiac malformations. Follow-up until the age of 3.5 years showed growth and development within normal limits. His father had a unilateral, left-sided cleft lip. Both were reexamined for minor symptoms of other TP63 disorders and none were found.


▼ Inheritance

The transmission pattern of OFC8 in the families reported by Leoyklang et al. (2006) and Basha et al. (2018) was consistent with autosomal dominant inheritance.


▼ Molecular Genetics

In a 4-year-old Thai girl with nonsyndromic orofacial cleft, Leoyklang et al. (2006) identified a missense mutation in the TP63 gene (R313G; 603273.0021).

In a family (CLP-1055) in which the proband and his father had orofacial cleft-8, Basha et al. (2018) identified heterozygosity for a 2-bp duplication (603273.0029) in the TP63 gene. The mutation, which was found by exome sequencing, segregated with the phenotype in the family and was not present in the gnomAD database.


▼ REFERENCES

  1. Basha, M., Demeer, B., Revencu, N., Helaers, R., Theys, S., Saba, S. B., Boute, O., Devauchelle, B., Francois, G., Bayet, B., Vikkula, M. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. J. Med. Genet. 55: 449-458, 2018. [PubMed: 29500247, related citations] [Full Text]

  2. Leoyklang, P., Siriwan, P., Shotelersuk, V. A mutation of the p63 gene in non-syndromic cleft lip. (Letter) J. Med. Genet. 43: e28, 2006. Note: Electronic Article. [PubMed: 16740912, images, related citations] [Full Text]


Creation Date:
Carol A. Bocchini : 10/14/2018
Edit History:
carol : 12/29/2021
carol : 02/07/2020
carol : 10/15/2018
carol : 10/14/2018

# 618149

OROFACIAL CLEFT 8; OFC8


Alternative titles; symbols

CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8


ORPHA: 199306;   DO: 0080401;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3q28 Orofacial cleft 8 618149 3 TP63 603273

TEXT

A number sign (#) is used with this entry because of evidence that orofacial cleft-8 (OFC8) is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28.

Description

Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip (Leoyklang et al., 2006; Basha et al., 2018).


Clinical Features

Leoyklang et al. (2006) reported a 4-year-old Thai girl with a surgically repaired bilateral complete cleft lip. Her parents were unaffected.

Basha et al. (2018) reported a family (CLP-1055) in which the proband and his father had orofacial cleft. The son had a unilateral, right-sided cleft lip. He had no limb anomaly, no ectodermal dysplasia, and no cardiac malformations. Follow-up until the age of 3.5 years showed growth and development within normal limits. His father had a unilateral, left-sided cleft lip. Both were reexamined for minor symptoms of other TP63 disorders and none were found.


Inheritance

The transmission pattern of OFC8 in the families reported by Leoyklang et al. (2006) and Basha et al. (2018) was consistent with autosomal dominant inheritance.


Molecular Genetics

In a 4-year-old Thai girl with nonsyndromic orofacial cleft, Leoyklang et al. (2006) identified a missense mutation in the TP63 gene (R313G; 603273.0021).

In a family (CLP-1055) in which the proband and his father had orofacial cleft-8, Basha et al. (2018) identified heterozygosity for a 2-bp duplication (603273.0029) in the TP63 gene. The mutation, which was found by exome sequencing, segregated with the phenotype in the family and was not present in the gnomAD database.


REFERENCES

  1. Basha, M., Demeer, B., Revencu, N., Helaers, R., Theys, S., Saba, S. B., Boute, O., Devauchelle, B., Francois, G., Bayet, B., Vikkula, M. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. J. Med. Genet. 55: 449-458, 2018. [PubMed: 29500247] [Full Text: https://doi.org/10.1136/jmedgenet-2017-105110]

  2. Leoyklang, P., Siriwan, P., Shotelersuk, V. A mutation of the p63 gene in non-syndromic cleft lip. (Letter) J. Med. Genet. 43: e28, 2006. Note: Electronic Article. [PubMed: 16740912] [Full Text: https://doi.org/10.1136/jmg.2005.036442]


Creation Date:
Carol A. Bocchini : 10/14/2018

Edit History:
carol : 12/29/2021
carol : 02/07/2020
carol : 10/15/2018
carol : 10/14/2018



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025